SARCOLEMMAL DEFICIENCY OF SARCOGLYCAN COMPLEX IN AN 18-MONTH-OLD TURKISH BOY WITH A LARGE DELETION IN THE BETA SARCOGLYCAN GENE
Diniz G1,*, Tekgul H2, Hazan F3, Yararbas K4, Tukun A5
*Corresponding Author: Associate Professor Gulden Diniz, Neuromuscular Disease Center, Tepecik Research Hospital, Kibris Sehitleri Cad. 51/11 Alsancak 35220, Izmir, Turkey. Tel: +90-232-362-5547. Fax: +90-232-362- 7144. E-mail: agdiniz@gmail.com
page: 71
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Abstract

Limb-girdle muscular dystrophy type 2E (LGMD- 2E) is caused by autosomal recessive defects in the beta sarcoglycan (SGCB) gene located on chromosome 4q12. In this case report, the clinical findings, histopathological features and molecular genetic data in a boy with β sarcoglycanopathy are presented. An 18-month-old boy had a very high serum creatinine phosphokinase (CPK) level that was accidentally determined. The results of molecular analyses for the dystrophin gene was found to be normal. He underwent a muscle biopsy which showed dystrophic features. Immunohistochemistry showed that there was a total loss of sarcolemmal sarcoglycan complex. DNA analysis revealed a large homozygous deletion in the SCGB gene. During 4 years of follow-up, there was no evidence to predict a severe clinical course except the muscle enzyme elevation and myopathic electromyography (EMG) finding. The presented milder phenotype of LGMD-2E with a large deletion in the SGCB gene provided additional support for the clinical heterogeneity and pathogenic complexity of the disease.



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